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rs1057515577

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057515577(A;G)
Make rs1057515577(G;G)
ReferenceGRCh38.p7 38.3/150
ChromosomeX
Position129553302
GeneOCRL
is asnp
is mentioned by
dbSNPrs1057515577
dbSNP (old)rs1057515577
ClinGenrs1057515577
ebirs1057515577
HLIrs1057515577
Exacrs1057515577
Gnomadrs1057515577
Varsomers1057515577
Maprs1057515577
PheGenIrs1057515577
Biobankrs1057515577
1000 genomesrs1057515577
hgdprs1057515577
ensemblrs1057515577
gopubmedrs1057515577
geneviewrs1057515577
scholarrs1057515577
googlers1057515577
pharmgkbrs1057515577
gwascentralrs1057515577
openSNPrs1057515577
23andMers1057515577
23andMe allrs1057515577
SNPshotrs1057515577
SNPdbers1057515577
MSV3drs1057515577
GWAS Ctlgrs1057515577
Max Magnitude0
ClinVar
Risk rs1057515577(G;G)
Alt rs1057515577(G;G)
Reference Rs1057515577(A;A)
Significance Pathogenic
Disease Lowe syndrome
Variation info
Gene OCRL
CLNDBN Lowe syndrome
Reversed 0
HGVS NC_000023.10:g.128687279A>G
CLNSRC
CLNACC RCV000408904.1,